Androgen insensitivity syndrome ten years of our experience

Abstract

Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenotypic females but genetically male individuals. Over the past 10 years, we have collected data related to androgen insensitivity from more than 150 cases. The research identified several important but neglected facts about this syndrome; including the identification of mutations in 39% of the cases and the establishment of the cause of pathogenesis in 60% of them. The most intriguing facts were uncovered in relation to late presentation of the AIS cases, little awareness among patients and family members, no consensus on the age of performing gonadectomy, and reluctance of the patients to undergo recommended surgery. These issues need immediate attention to improve healthcare and management of AIS cases. This article summarizes our observations about AIS with an aim to spread awareness among patients and clinicians.

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

“…Such studies demonstrate that most patients with DSD 46, XY are initially registered as males. All patients with CAIS in our study were registered as females according to their phenotypes and this was confirmed in other researches ( 10 , 15 – 20 ).…”

Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western India

“…This difference may be due to more frequent consanguineous/endogamous marriages in India or the frequent occurrence of a hotspot SRD5A2 mutation (p.Arg246Gln) in the Indian population [Bittles, 2002;Arya et al, 2020]. Delayed presentation in Asian Indian patients is probably due to social inhibition and reluctance to seek medical attention [Subramaniam et al, 2013]. The male sex of rearing in PAIS patients with EMS ≥4 [Deeb et al, 2005] and rarity of gender dysphoria and gender role change in AIS (PAIS: 9%; CAIS: nil) were reproduced in our study [Mazur, 1963].…”

Mujer con seminoma puro y neoplasia intratubular germinal contralateral. Informe de un caso

“…Unos pocos estudios retrospectivos han estimado que del 0.8 al 2.4% de las niñas con las hernias inguinales tienen síndrome de insensibilidad a los andrógenos 15 . Se han publicado casos de carácter familiar en los que algunos miembros muestran defectos mínimos en la virilización (microfalo o escroto bífido) y anomalías más severas, tales como: hipospadias perineoescrotal, ausencia de vasa deferens y orificio vaginal 16,17 . Un estudio de 150 casos 18 identificó mutaciones en el 39% de los pacientes y el establecimiento de la causa de la patogénesis en el 60% de ellos, con presentación tardía en la mayoría, y con poca concientización de los afectados y sus familiares.…”